DiGeorge syndrome and unilateral symbrachydactyly.
We describe a child with DiGeorge syndrome due to a del22(q11) and a symbrachydactyly of the left hand. The underlying cardiovascular malformations in DiGeorge syndrome may lead to an increased susceptibility to vascular disruptions, giving further support to the subclavian-artery-disruption-sequence theory.
Devriendt
K
K
Centre for Human Genetics, University Hospital Leuven, Belgium.
De Smet
L
L
De Boeck
K
K
Fryns
J P
JP
D001132:Arm / Q000002:abnormalities*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D008297:Male; D013348:Subclavian Artery / Q000196:embryology